Variant report

Variant	nsv462949
Chromosome Location	chr6:56973902-57098973
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2276)
CpG islands
(count:2260)
Chromatin interactive
region (count:189)
LncRNA
region (count:84)
Mature miRNA
region (count: 0)
miRNA target
sites (count:9)

(count:2276 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:57006630-57006920	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:57087034-57087353	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:57087035-57087247	K562	blood:	n/a	n/a
4	ARID3A	chr6:57084943-57085591	K562	blood:	n/a	n/a
5	ARID3A	chr6:57036869-57037158	K562	blood:	n/a	n/a
6	ARID3A	chr6:57054948-57055310	HepG2	liver:	n/a	n/a
7	ARID3A	chr6:57037400-57037916	K562	blood:	n/a	n/a
8	ARID3A	chr6:57081082-57081137	HepG2	liver:	n/a	n/a
9	ARID3A	chr6:57089706-57089968	K562	blood:	n/a	n/a
10	ARID3A	chr6:57086547-57086551	HepG2	liver:	n/a	n/a
11	ARID3A	chr6:57036858-57037895	HepG2	liver:	n/a	n/a
12	ARID3A	chr6:57086179-57086335	K562	blood:	n/a	n/a
13	ARID3A	chr6:57081041-57081697	K562	blood:	n/a	n/a
14	ATF1	chr6:57089641-57090001	K562	blood:	n/a	n/a
15	ATF1	chr6:57032364-57032564	K562	blood:	n/a	n/a
16	ATF2	chr6:57086828-57087333	GM12878	blood:	n/a	n/a
17	ATF2	chr6:56973343-56973961	GM12878	blood:	n/a	n/a
18	ATF2	chr6:57036699-57037825	GM12878	blood:	n/a	n/a
19	ATF2	chr6:57036697-57037568	GM12878	blood:	n/a	n/a
20	ATF3	chr6:57086854-57087423	A549	lung:	n/a	n/a
21	ATF3	chr6:57037131-57037634	K562	blood:	n/a	n/a
22	BACH1	chr6:57036832-57037968	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr6:57086901-57087090	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr6:57075089-57075154	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr6:57086478-57086622	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr6:57038813-57039332	H1-hESC	embryonic stem cell:	n/a	chr6:57039149-57039163
27	BACH1	chr6:57038884-57039497	K562	blood:	n/a	chr6:57039149-57039163
28	BACH1	chr6:57087004-57087368	K562	blood:	n/a	n/a
29	BCL3	chr6:57036741-57037298	A549	lung:	n/a	n/a
30	BCL3	chr6:57036765-57037740	GM12878	blood:	n/a	chr6:57037718-57037731
31	BCLAF1	chr6:57036673-57037788	GM12878	blood:	n/a	chr6:57037718-57037731
32	BCLAF1	chr6:56973404-56973960	GM12878	blood:	n/a	n/a
33	BCLAF1	chr6:57036694-57037848	GM12878	blood:	n/a	chr6:57037718-57037731
34	BCLAF1	chr6:57037116-57037723	K562	blood:	n/a	n/a
35	BHLHE40	chr6:57037095-57037617	A549	lung:	n/a	n/a
36	BHLHE40	chr6:57036612-57037735	K562	blood:	n/a	n/a
37	BHLHE40	chr6:57087716-57087724	K562	blood:	n/a	n/a
38	BHLHE40	chr6:56973548-56973961	GM12878	blood:	n/a	n/a
39	BHLHE40	chr6:57086068-57087453	K562	blood:	n/a	chr6:57086883-57086899
40	BHLHE40	chr6:57086554-57087195	GM12878	blood:	n/a	chr6:57086883-57086899
41	BHLHE40	chr6:57036661-57038636	GM12878	blood:	n/a	n/a
42	BHLHE40	chr6:57036825-57037921	HepG2	liver:	n/a	n/a
43	BRCA1	chr6:57084932-57085327	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr6:57037200-57037782	HepG2	liver:	n/a	n/a
45	BRCA1	chr6:57087028-57087434	HepG2	liver:	n/a	n/a
46	BRCA1	chr6:57086027-57087588	Hela-S3	cervix:	n/a	n/a
47	BRCA1	chr6:57013231-57013245	HepG2	liver:	n/a	n/a
48	BRCA1	chr6:57037319-57037636	H1-hESC	embryonic stem cell:	n/a	n/a
49	BRCA1	chr6:57036802-57038359	Hela-S3	cervix:	n/a	n/a
50	BRCA1	chr6:57037011-57037734	GM12878	blood:	n/a	n/a

(count:2260 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:57040282-57040332	HMEC	breast:	n/a
2	chr6:57037482-57037532	NH-A	brain:	n/a
3	chr6:57040282-57040332	SK-N-SH_RA	brain:	n/a
4	chr6:57040282-57040332	HMEC	breast:	n/a
5	chr6:57037482-57037532	NH-A	brain:	n/a
6	chr6:57040282-57040332	SK-N-SH_RA	brain:	n/a
7	chr6:57082426-57082476	AG09309	skin:	n/a
8	chr6:57087242-57087292	SKMC	muscle:	n/a
9	chr6:56975219-56975269	NHDF-neo	bronchial:	n/a
10	chr6:57086716-57086766	AG10803	skin:	n/a
11	chr6:57037535-57037585	GM12891	blood:	n/a
12	chr6:57087242-57087292	A549	lung:	n/a
13	chr6:57037482-57037532	HCF	heart:	n/a
14	chr6:57037482-57037532	Jurkat	blood:	n/a
15	chr6:57037482-57037532	SKMC	muscle:	n/a
16	chr6:57087088-57087138	NH-A	brain:	n/a
17	chr6:57082426-57082476	HAEpiC	amniotic membrane:	n/a
18	chr6:57048049-57048099	HEK293	kidney:	embryo
19	chr6:57086154-57086204	U87	brain:	n/a
20	chr6:57082426-57082476	HUVEC	blood vessel:	n/a
21	chr6:57048049-57048099	HepG2	liver:	n/a
22	chr6:56975219-56975269	RPTEC	kidney:	n/a
23	chr6:57036955-57037005	HEK293	kidney:	embryo
24	chr6:57049329-57049379	ECC-1	luminal epithelium:	n/a
25	chr6:57037482-57037532	HMEC	breast:	n/a
26	chr6:57037099-57037149	LNCaP	prostate:	n/a
27	chr6:57087088-57087138	NT2-D1	testis:	n/a
28	chr6:57086154-57086204	GM06990	blood:	n/a
29	chr6:57036894-57036944	GM19239	blood:	n/a
30	chr6:57037099-57037149	GM19239	blood:	n/a
31	chr6:57086716-57086766	HRPEpiC	eye:	n/a
32	chr6:57086555-57086605	T-47D	breast:	n/a
33	chr6:57086555-57086605	HMEC	breast:	n/a
34	chr6:57082426-57082476	NB4	blood:	n/a
35	chr6:57036894-57036944	GM12891	blood:	n/a
36	chr6:57055034-57055084	AG09309	skin:	n/a
37	chr6:57086716-57086766	NT2-D1	testis:	n/a
38	chr6:57037535-57037585	ProgFib	skin:	n/a
39	chr6:57036463-57036513	HRCEpiC	kidney:	n/a
40	chr6:57086716-57086766	ECC-1	luminal epithelium:	n/a
41	chr6:57082426-57082476	HEK293	kidney:	embryo
42	chr6:57091289-57091339	NHBE	bronchial:	n/a
43	chr6:57086293-57086343	BJ	skin:	n/a
44	chr6:57034593-57034643	IMR90	lung:	fetal
45	chr6:57048049-57048099	HMEC	breast:	n/a
46	chr6:57037535-57037585	HCM	heart:	n/a
47	chr6:57048049-57048099	Jurkat	blood:	n/a
48	chr6:57086154-57086204	SK-N-SH_RA	brain:	n/a
49	chr6:57071124-57071174	A549	lung:	n/a
50	chr6:57087261-57087311	ECC-1	luminal epithelium:	n/a

(count:189 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr6:57076789..57078523-chr6:57080128..57081654,2	K562	blood:
2	chr6:57036970..57039600-chr6:57062053..57063901,3	MCF-7	breast:
3	chr6:57048931..57051887-chr6:57068074..57070259,2	K562	blood:
4	chr6:57013120..57015063-chr6:57039695..57041831,2	MCF-7	breast:
5	chr6:57049527..57052019-chr6:57181022..57183889,3	K562	blood:
6	chr6:57089755..57093412-chr6:57094314..57097096,3	K562	blood:
7	chr6:57080126..57084455-chr6:57085669..57087997,5	K562	blood:
8	chr6:57020437..57022487-chr6:57036257..57038187,2	MCF-7	breast:
9	chr6:57033881..57038745-chr6:57081255..57088571,10	K562	blood:
10	chr6:56817882..56819972-chr6:57035811..57037517,2	K562	blood:
11	chr6:56977388..56979251-chr6:56980125..56981936,2	K562	blood:
12	chr6:57062290..57064977-chr6:57069550..57072022,3	MCF-7	breast:
13	chr6:57084935..57087145-chr6:57089121..57091163,3	K562	blood:
14	chr6:56993514..56996955-chr6:57008261..57010355,3	K562	blood:
15	chr6:57035422..57037209-chr6:57089441..57091724,2	K562	blood:
16	chr6:57085703..57087648-chr6:57095179..57097117,2	MCF-7	breast:
17	chr6:57037787..57040302-chr6:57057666..57060261,2	K562	blood:
18	chr6:56994297..56995977-chr6:57004990..57006516,2	K562	blood:
19	chr6:57063501..57066310-chr6:57079453..57081666,2	K562	blood:
20	chr6:57011069..57013292-chr6:57014942..57016873,3	K562	blood:
21	chr6:56986382..56987973-chr6:56993150..56995625,2	K562	blood:
22	chr6:56982462..56986002-chr6:56986648..56989493,4	K562	blood:
23	chr6:57056646..57059928-chr6:57064718..57069003,5	K562	blood:
24	chr6:57045877..57048484-chr6:57055538..57057146,2	K562	blood:
25	chr6:56980722..56982441-chr6:56985214..56987873,2	K562	blood:
26	chr6:57054788..57055522-chr6:57132728..57133505,2	K562	blood:
27	chr6:56994508..56996955-chr6:57008471..57010355,2	K562	blood:
28	chr6:57054267..57055185-chr6:57188775..57189678,2	MCF-7	breast:
29	chr6:57054645..57055602-chr6:57180976..57181857,8	MCF-7	breast:
30	chr6:57052164..57054197-chr6:57055317..57057231,2	K562	blood:
31	chr6:56980361..56982548-chr6:57043323..57045431,2	K562	blood:
32	chr6:57011069..57013292-chr6:57014942..57016873,3	K562	blood:
33	chr6:57005624..57007757-chr6:57049962..57051684,2	K562	blood:
34	chr6:57011547..57015290-chr6:57018812..57021897,3	MCF-7	breast:
35	chr6:56981690..56984162-chr6:57046639..57048442,2	K562	blood:
36	chr6:56956820..56959201-chr6:56973500..56975687,2	K562	blood:
37	chr6:57033399..57035837-chr6:57077480..57080109,2	K562	blood:
38	chr11:64084477..64085203-chr6:57037062..57037649,2	Hela-S3	cervix:
39	chr6:57037434..57039055-chr6:57042704..57045228,2	MCF-7	breast:
40	chr6:57063501..57066310-chr6:57079453..57081666,2	K562	blood:
41	chr6:56993514..56996955-chr6:57008261..57010355,3	K562	blood:
42	chr6:57055086..57056721-chr6:57179456..57181277,2	MCF-7	breast:
43	chr6:57002952..57005589-chr6:57005953..57008891,3	MCF-7	breast:
44	chr6:57002952..57005589-chr6:57005953..57008891,3	MCF-7	breast:
45	chr6:56990280..56992648-chr6:56996805..56999111,2	K562	blood:
46	chr6:57012321..57014450-chr6:57048955..57051340,2	K562	blood:
47	chr6:56977388..56979251-chr6:56980125..56981936,2	K562	blood:
48	chr6:56910595..56916200-chr6:57035587..57038867,7	K562	blood:
49	chr6:56969351..56971766-chr6:56991775..56994695,2	K562	blood:
50	chr6:57086851..57087515-chr6:86388027..86388770,2	HCT-116	colon:

(count:84 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAB23-2	chr6:56979699-56980056	ENSG00000226803.3
2	lnc-RAB23-7	chr6:57087668-57088015	ucscGeneNc_uc003pdq_1
3	lnc-RAB23-2	chr6:57035803-57035847	ENSG00000226803.3
4	lnc-RAB23-2	chr6:57036872-57037220	ENSG00000226803.3
5	lnc-RAB23-2	chr6:57035803-57035847	ENSG00000226803.3
6	lnc-RAB23-2	chr6:57015826-57015993	ENSG00000226803.3
7	lnc-RAB23-2	chr6:57029679-57030141	ENSG00000226803.3
8	lnc-RAB23-2	chr6:56979692-56980056	ENSG00000226803.3
9	lnc-RAB23-2	chr6:57036872-57037194	ENSG00000226803
10	lnc-RAB23-2	chr6:56979975-56980056	ENSG00000226803.3
11	lnc-RAB23-2	chr6:57030017-57030638	ENSG00000226803.3
12	lnc-RAB23-2	chr6:56979709-56980056	ENSG00000226803
13	lnc-RAB23-2	chr6:56998945-56999013	ENSG00000226803.3
14	lnc-RAB23-2	chr6:57038174-57038278	ENSG00000226803.3
15	lnc-RAB23-2	chr6:56980836-56980925	ENSG00000226803.3
16	lnc-RAB23-2	chr6:57034991-57035847	ENSG00000226803.3
17	lnc-RAB23-2	chr6:57035803-57035847	ENSG00000226803.3
18	lnc-RAB23-2	chr6:56979714-56980056	ENSG00000226803.3
19	lnc-RAB23-2	chr6:57035803-57035847	ENSG00000226803.3
20	lnc-RAB23-2	chr6:57036872-57038248	NONHSAT113285
21	lnc-BAG2-10	chr6:57084538-57084778	expReg_chr6_6420_+
22	lnc-RAB23-2	chr6:57015701-57015744	ENSG00000226803.3
23	lnc-RAB23-2	chr6:57035803-57035847	ENSG00000226803.3
24	lnc-RAB23-2	chr6:57035803-57035896	ENSG00000226803
25	lnc-RAB23-2	chr6:57035801-57035896	ENSG00000226803.3
26	lnc-RAB23-2	chr6:57035803-57035847	ENSG00000226803.3
27	lnc-RAB23-2	chr6:57035803-57035847	ENSG00000226803.3
28	lnc-RAB23-2	chr6:57035803-57035847	ENSG00000226803.3
29	lnc-RAB23-2	chr6:57035803-57035896	ENSG00000226803.3
30	lnc-RAB23-2	chr6:56980254-56980361	ENSG00000226803.3
31	lnc-BAG2-8	chr6:57033221-57033631	NONHSAT113278
32	lnc-RAB23-2	chr6:57035769-57035896	NONHSAT113285
33	lnc-RAB23-2	chr6:56979709-56980056	ENSG00000226803.3
34	lnc-RAB23-2	chr6:57035803-57035847	ENSG00000226803.3
35	lnc-RAB23-2	chr6:56981224-56981345	ENSG00000226803.3
36	lnc-RAB23-2	chr6:57038535-57039034	ENSG00000226803.3
37	lnc-RAB23-2	chr6:56981224-56981345	ENSG00000226803.3
38	lnc-RAB23-2	chr6:57035803-57035847	ENSG00000226803.3
39	lnc-RAB23-2	chr6:56980254-56980361	ENSG00000226803.3
40	lnc-RAB23-2	chr6:57029679-57030231	ENSG00000226803.3
41	lnc-RAB23-2	chr6:56979724-56980056	ENSG00000226803.3
42	lnc-RAB23-2	chr6:56979722-56980056	ENSG00000226803.3
43	lnc-RAB23-2	chr6:57035803-57035847	ENSG00000226803.3
44	lnc-RAB23-2	chr6:56980836-56980925	ENSG00000226803.3
45	lnc-KIAA1586-3	chr6:56989532-56989657	NONHSAT113265
46	lnc-RAB23-2	chr6:57035803-57035896	ENSG00000226803.3
47	lnc-RAB23-2	chr6:57016621-57016704	ENSG00000226803.3
48	lnc-RAB23-2	chr6:57035803-57035847	ENSG00000226803.3
49	lnc-BAG2-8	chr6:57025606-57025950	NONHSAT113278
50	lnc-RAB23-2	chr6:56980254-56980361	ENSG00000226803.3

No data

(count:9 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	ZNF451	hsa-miR-335-5p	chr6:57033557-57033579
2	BAG2	hsa-miR-128-3p	chr6:57049601-57049608
3	BAG2	hsa-miR-128-3p	chr6:57049588-57049608
4	RAB23	hsa-miR-103a-3p	chr6:57054961-57054982
5	RAB23	hsa-miR-16-5p	chr6:57054238-57054258
6	RAB23	hsa-miR-17-5p	chr6:57054034-57054057
7	BAG2	hsa-miR-181a-5p	chr6:57049523-57049545
8	ZNF451	hsa-miR-335-5p	chr6:57033572-57033579
9	BAG2	hsa-miR-128-3p	chr6:57049401-57049421

Variant related genes	Relation type
RAB23	TF binding region
BAG2	TF binding region
ZNF451	TF binding region
ENSG00000226803	TF binding region
RAB23	CpG island
BAG2	CpG island
ZNF451	CpG island
ENSG00000226803	CpG island
ENSG00000112200	chromatin interactions
ENSG00000164924	chromatin interactions
ENSG00000151914	chromatin interactions
ENSG00000146143	chromatin interactions
ENSG00000148120	chromatin interactions
ENSG00000173113	chromatin interactions
ENSG00000203875	chromatin interactions
ENSG00000112210	chromatin interactions
ENSG00000117625	chromatin interactions
ENSG00000226803	chromatin interactions
ENSG00000249240	chromatin interactions
ENSG00000241839	chromatin interactions
ENSG00000168116	chromatin interactions
ENSG00000112208	chromatin interactions
ENSG00000151917	chromatin interactions
MGEA5	miRNA target sites
CCDC117	miRNA target sites

Extended variants
information (count: 3898 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:3898 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9464418	chr6:56973902-56973903	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114006592	chr6:56973929-56973930	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs527291018	chr6:56973933-56973934	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs566344900	chr6:56973985-56973986	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs535046676	chr6:56973992-56973993	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs183784682	chr6:56974035-56974036	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs186920402	chr6:56974063-56974064	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs34921632	chr6:56974101-56974102	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs77242241	chr6:56974102-56974103	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs537921126	chr6:56974113-56974114	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs561076728	chr6:56974149-56974150	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs550026373	chr6:56974225-56974226	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571487369	chr6:56974227-56974228	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114993357	chr6:56974265-56974266	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553787474	chr6:56974285-56974286	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572304318	chr6:56974333-56974334	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536292569	chr6:56974334-56974335	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371763382	chr6:56974362-56974363	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375390096	chr6:56974398-56974399	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576157965	chr6:56974426-56974427	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543533701	chr6:56974548-56974549	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565005888	chr6:56974625-56974626	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577375083	chr6:56974627-56974628	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35298588	chr6:56974643-56974644	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189906501	chr6:56974685-56974686	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372445024	chr6:56974690-56974691	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369236291	chr6:56974696-56974697	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549031551	chr6:56974736-56974737	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560842564	chr6:56974765-56974766	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531302721	chr6:56974810-56974811	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549916550	chr6:56974814-56974815	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571276798	chr6:56974841-56974842	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146879186	chr6:56974882-56974883	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139785689	chr6:56974916-56974917	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182106120	chr6:56974978-56974979	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527776428	chr6:56975052-56975053	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536526292	chr6:56975065-56975066	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371529075	chr6:56975093-56975094	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554415160	chr6:56975139-56975140	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569732114	chr6:56975177-56975178	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144198196	chr6:56975220-56975221	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574644019	chr6:56975264-56975265	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543617469	chr6:56975332-56975333	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558628669	chr6:56975338-56975339	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34194164	chr6:56975377-56975378	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577263058	chr6:56975395-56975396	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541303347	chr6:56975478-56975479	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146554806	chr6:56975502-56975503	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575057133	chr6:56975571-56975572	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542558441	chr6:56975574-56975575	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	22522925	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Autism	22495309	CNVD
Colorectal cancer	21645411	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3635 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56958200-56979600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:56958800-56974000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:56959200-56975000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:56961800-56975400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:56962600-56974400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:56966600-56974800	Weak transcription	Small Intestine	intestine
7	chr6:56966600-56987600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:56966600-56987600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:56966600-57012400	Weak transcription	Spleen	Spleen
10	chr6:56966800-56987600	Weak transcription	Fetal Intestine Small	intestine
11	chr6:56966800-57018000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:56967000-56979000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:56967000-56981600	Weak transcription	Stomach Mucosa	stomach
14	chr6:56967000-56983400	Weak transcription	Fetal Stomach	stomach
15	chr6:56967200-56979400	Weak transcription	Fetal Heart	heart
16	chr6:56967200-56992200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr6:56967600-56981400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr6:56967800-56976800	Weak transcription	Lung	lung
19	chr6:56967800-56992400	Weak transcription	A549	lung
20	chr6:56967800-56995400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr6:56967800-56995800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr6:56968000-56974600	Weak transcription	Fetal Brain Male	brain
23	chr6:56968000-56981600	Weak transcription	Ovary	ovary
24	chr6:56968000-56987800	Weak transcription	Aorta	Aorta
25	chr6:56968000-56993400	Weak transcription	Liver	Liver
26	chr6:56968000-56993600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:56968200-56986400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:56968200-56987000	Weak transcription	Fetal Intestine Large	intestine
29	chr6:56968200-57036400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr6:56968400-56974600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:56968400-56993200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:56968400-57000800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr6:56968600-56974600	Weak transcription	Colon Smooth Muscle	Colon
34	chr6:56968600-56974600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr6:56968600-56974800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:56968600-56977000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:56968600-56977200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr6:56968600-56987800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr6:56968600-56987800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr6:56968600-56998200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr6:56968600-57002200	Weak transcription	Thymus	Thymus
42	chr6:56968600-57006600	Weak transcription	Brain Angular Gyrus	brain
43	chr6:56968600-57018400	Weak transcription	Psoas Muscle	Psoas
44	chr6:56969000-56986600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:56969200-56974000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr6:56969200-56974600	Weak transcription	NHLF	lung
47	chr6:56969200-56986600	Weak transcription	Fetal Muscle Leg	muscle
48	chr6:56969200-56987200	Weak transcription	Adipose Nuclei	Adipose
49	chr6:56969200-56987600	Weak transcription	Left Ventricle	heart
50	chr6:56969200-56987800	Weak transcription	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links